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Towards Optimal Diagnosis of Type II Germ Cell Tumors

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Towards Optimal Diagnosis of Type II Germ Cell Tumors Towards optimal diagnosis of type II germ cell tumors Hans Stoop Towards optimal diagnosis of type II germ cell tumors Optimale diagnostiek van type II kiemceltumoren The work presented in this thesis was done at the Department of Pathology, Erasmus Medical Center, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands Cover design and document layout: Jackelien Karel-Stoop & Martin Rijlaarsdam Printed by: Ridderprint BV, Ridderkerk ISBN: 978-90-5335-482-7 © H. Stoop 2011 Towards Optimal Diagnosis of Type II Germ Cell Tumors Optimale diagnostiek van type II kiemceltumoren Proefschrift ter verkrijging van de graad van doctor aan de Erasmus Universiteit Rotterdam op gezag van de rector magnificus prof.dr. H.G. Schmidt en volgens besluit van het College voor Promoties. De openbare verdediging zal plaatsvinden op woensdag 30 november 2011 om 9.30 uur door Johannes Adrianus Stoop geboren te Bergen op Zoom PROMOTIECOMMISSIE: Promotoren: Prof.dr. L.H.J. Looijenga Prof.dr. J.W. Oosterhuis Overige leden: Prof.dr. C.H. Bangma Prof.dr. S.L.S. Drop Prof.dr. R.R. de Krijger Our wisdom comes from our experience, and our experience comes from our foolishness Sacha Guitry Voor mijn ouders: Sjaak † en Lisa Contents Abbreviations Chapter 1 13 General Introduction 1.1 Introduction 1.2 Migration of primordial germ cells 1.3 Gonocyte micro-environment 1.4 Differentiation into testis 1.5 Classification of germ cell tumors 1.5.1 Type III germ cell tumors 1.5.2 Type II germ cell tumors 1.5.2.1 Introduction 1.5.2.2 Etiology and identified risk factors 1.5.2.3 Compiling model of type II (testicular) germ cell tumor risk factors 1.5.2.4 Precursor of testicular germ cell tumors 1.6 Concluding remarks References Chapter 2 27 Aims and outlines of the thesis Chapter 3 31 Pathobiological implications of the expression of markers of testicular carcinoma in situ by fetal germ cells. Journal of Pathology 203: 849-857, 2004 Chapter 4 49 Germ cell lineage differentiation in non-seminomatous germ cell tumours. Journal of Pathology 208: 395-400, 2006 Chapter 5 61 POU5F1 (OCT3/4) identifies cells with pluripotent potential in human germ cell tumors. Cancer Research 63: 2244-2250, 2003 Chapter 6 79 Diagnostic value of OCT3/4 for pre-invasive and invasive testicular germ cell tumours. Journal of Pathology 206: 242-249, 2005 Chapter 7 95 Non-invasive detection of testicular carcinoma in situ in semen using OCT3/4. European Urology 54: 153-160, 2008 Chapter 8 113 A 40-year-old woman with a progressive periventricular white matter lesion. Brain Pathology 18: 103-104/142, 2008 Chapter 9 119 Differential expression of SOX17 and SOX2 in germ cells and stem cells has biological and clinical implications. Journal of Pathology 215: 21-30, 2008 Chapter 10 137 Stem cell factor as a novel diagnostic marker for early malignant germ cells. Journal of Pathology 216: 43-54, 2008 Chapter 11 157 Diagnosis of testicular carcinoma in situ (intratubular and micro-invasive) seminoma and embryonal carcinoma using direct enzymatic alkaline phosphatase reactivity on frozen histological sections. Histopathology 58: 440-446, 2011 Chapter 12 169 Global DNA methylation in fetal human germ cells and germ cell tumours: association with differentiation and cisplatin resistance. Journal of Pathology 221: 433-442, 2010 Chapter 13 187 General Discussion 13.1 Introduction 13.2 Normal testicular development and protein expression profile 13.3 From pluripotency to totipotency of (testicular) germ cell tumors 13.4 OCT3/4 as ultimate marker for diagnosis and non-invasive detection 13.5 Differential diagnosis of seminomatous tumors and embryonal carcinoma 13.6 SCF as diagnostic marker and early pathogenetic mechanism 13.7 Direct frozen tissue diagnosis of CIS and invasive testicular germ cell tumors 13.8 Epigenetics 13.9 Concluding remarks References Chapter 14 201 Summary/Samenvatting Dankwoord 211 Curriculum Vitae 213 List of publications 214 Abbreviations AFP: a-fetoprotein ChC: choriocarcinoma CIS: carcinoma in situ c-KIT: stem cell factor receptor (CD117) dAP: direct alkaline phosphatase (staining) DSD: disorders of sex development EC: embryonal carcinoma FFPE: formalin fixed paraffin embedded GB: gonadoblastoma GBY: critical region of the gonadoblastoma locus on Y chromosome GCAP: germ cell alkaline phosphatase GCL: germ cell lineage H&E: haematoxylin and eosin (staining) hCG: human chorionic gonadotrophin IGCNU: intratubular germ cell neoplasia unclassified IHC: immunohistochemistry KITLG: c-KIT ligand (SCF) LDH: lactate dehydrogenase PGC(s): primordial germ cell(s) PLAP: placenta like alkaline phosphatase pSg: pre-spermatogonium Sc: spermatocyte SCF: stem cell factor (KITLG) SCO: sertoli cell only SE: seminoma Sp: spermatogonium Sz: spermatozoa TDS: testicular dysgenesis syndrome TE: teratoma TGCT(s): testicular germ cell tumors TIN: testicular intratubular neoplasia TM: testis microcalcifications TMA: tissue micro array TNAP: tissue non-specific alkaline phosphatase TSAP: tissue specific alkaline phosphatase TSPY: testis specific protein Y encoded YST: yolk sac tumor A:IM>KØ 8A8E4?AGEB7H6G<BA CHAPTER 1 1.1 Introduction Primordial Germ Cells (PGCs) are the germ line stem cells in mammals that give rise to gametes at later life. These final mature germ cells, oocytes in females and spermatids in males, are designed to transfer genetic information to the next generation. Therefore they are specifically and optimally equipped, and undergo defined steps of maturation and specialization during their development. Much research on the fundamental aspects of germ cell development is done in vivo or ex vivo on animals, including Drosophila, zebrafish 1, and mouse 2-6. These observations are extrapolated to the human situation, because of the limitations to study early human embryogenesis. However, this has restrictions, because of possible differences between mice and humans, including and specifically the germ cell lineage at early (embryonic) age 7. Therefore direct investigation of human germ cell development is crucial to understand the various processes involved, and to prevent wrong interpretation due to the existence of interspecies variation(s). This is especially of relevance in the context of understanding the earliest events in the pathogenesis of human germ cell tumors (GCTs), for which significant differences exist between humans and animals 8. In the next paragraphs a selection of relevant observations will be presented, informative for better understanding the pathogenesis of human GCTs. Because of this defined goal, the information given will be no review of the whole existing literature on this topic, for which other papers are available 8-10. 1.2 Migration of primordial germ cells In the third week of human embryonic development PGCs start to migrate by active amoeboid movement under response of mitogenic and survival factors from their origin in the posterior wall of the yolk sac along the hindgut, through the dorsal mesentery into the genital ridge 1,3,6,11-12. This migration route can be visualized based on the fact that PGCs express a number of specific (embryonic) markers, involved in various biological mechanisms during this time window. Here, only those markers that have a (putative) value in diagnosis of human GCTs, i.e., alkaline phosphatase, OCT3/4, c-KIT, VASA, TSPY and SOX17 13-17 will be referred to. Proper PGC development is dependent on the c-KIT pathway, in which both a survival (i.e., apoptosis suppressing) effect and well as a proliferative effect of the ligand (KITLG or Stem Cell Factor) can be identified 5. In the rest of the introductory chapter the human embryonic gonadal male situation will be described, if not stated otherwise. 14 General Introduction 1.3 Gonocyte micro-environment At the time the PGCs enters the genital ridge (later in the fifth week of development), they are called gonocytes. That moment, their migratory behavior ceases, but they continue to proliferate (the number at that time is approximately 1000 to 2000) 18. At this specific moment of development, no differences between the sexes exist, related to both the germ cells itself as well as their micro-environment. However, early in the sixth week in the male constitution (XY), initiated by expression of the transcription factor SRY (testis determining factor), and subsequently SOX-9, Sertoli cells are formed, resulting in the formation of primitive sex cords, wherein the gonocytes interact with the supportive cells. This will be presented in more detail in the next paragraph. 1.4 Differentiation into testis Under influence of SRY, of which the gene is mapped to the Y chromosome, the first differences between the male and female gonad are formed. In fact, the bipotential gonad is triggered to differentiate into the testicular direction by inducing a subset of somatic cells to differentiate into Sertoli cells, believed to act as the organizing center of the male gonad 19. The presence of germ cells plays no part in this specific process in the male 20. Parallel to the differentiation and proliferation of the Sertoli cells, the gonad increases in size due to increased proliferation and migration of other cells which will give rise to endothelial-, myoepithelial-, and Leydig cells 18,21-23. During the 7th week of gestation the gonocytes become enclosed in the further developed sex cords, now referred to as primitive seminiferous cords, and enter mitotic arrest. At this time, the amount of germ cells is about 100.000 24-26. This situation will remain stable until a few days after birth. The gonocytes present have a high content of glycogen as in the stage of PGC, but still show expression of the other proteins, as mentioned before (alkaline phosphatase, OCT3/4, c-KIT, VASA, TSPY and SOX17) 27-30. The gonocytes and Sertoli cells have initially a non-structured organization, but gradually the germ cells migrate toward the periphery of the further developing seminiferous tubules. In the 13th week the germ cells are predominantly localized at the basal side, and start to loose expression of the embryonic markers mentioned, with the exception of VASA and SOX17.
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